A 22-year-old woman has primary amenorrhoea, normal breast development, absent uterus on ultrasound, and a 46,XX karyotype. FSH is low. The most likely diagnosis is:

• A Turner syndrome (45,X)
• B Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome ✓
• C Complete androgen insensitivity syndrome (CAIS)
• D Kallmann syndrome

Explanation

MRKH syndrome is characterised by congenital aplasia of the uterus and upper vagina in a female (46,XX) with normal ovarian function (normal FSH, normal breast development from oestrogen). CAIS is 46,XY with a uterus absent and testes present — karyotype would be XY. Turner syndrome is 45,X with elevated FSH and absent secondary sexual characteristics. Kallmann syndrome involves hypogonadotropic hypogonadism with anosmia and absent breast development.

Reference: Shaw's Textbook of Gynaecology, 17th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.